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[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

Voprosy meditsinskoi khimii - 1 Jan 2000

Bukina A M, Tsvetkova I V, Semiachkina A N, Il'ina E S

Abstract excerpt

The data on biochemical and molecular-genetic diagnostics of a hereditary lisosomal storage disease, late infantile neuronal ceroid lipofuscinosis (CLN2) are presented. The disease is associated with a hereditary deficiency of pepstatin-unsensitive peptidase--tripeptidylpeptidase 1 (TPP1)--caused by mutations in the TPP1-coding gene CLN2. Among the 30 patients with clinical manifestations of CLN, six patients...

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Source

Identifiers

PMID: 12698559

Genes

TPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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